Title |
Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation
|
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Published in |
Journal of Clinical Immunology, January 2015
|
DOI | 10.1007/s10875-014-0125-1 |
Pubmed ID | |
Authors |
Divya Punwani, Haopeng Wang, Alice Y. Chan, Morton J. Cowan, Jacob Mallott, Uma Sunderam, Marianne Mollenauer, Rajgopal Srinivasan, Steven E. Brenner, Arend Mulder, Frans H. J. Claas, Arthur Weiss, Jennifer M. Puck |
Abstract |
A male infant developed generalized rash, intestinal inflammation and severe infections including persistent cytomegalovirus. Family history was negative, T cell receptor excision circles were normal, and engraftment of maternal cells was absent. No defects were found in multiple genes associated with severe combined immunodeficiency. A 9/10 HLA matched unrelated hematopoietic cell transplant (HCT) led to mixed chimerism with clinical resolution. We sought an underlying cause for this patient's immune deficiency and dysregulation. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 2% |
United States | 1 | 2% |
Unknown | 50 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 10 | 19% |
Student > Master | 8 | 15% |
Researcher | 8 | 15% |
Other | 6 | 12% |
Student > Doctoral Student | 3 | 6% |
Other | 7 | 13% |
Unknown | 10 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 13 | 25% |
Agricultural and Biological Sciences | 8 | 15% |
Biochemistry, Genetics and Molecular Biology | 6 | 12% |
Immunology and Microbiology | 4 | 8% |
Nursing and Health Professions | 2 | 4% |
Other | 6 | 12% |
Unknown | 13 | 25% |